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Aliases for CDH23 Gene

Aliases for CDH23 Gene

  • Cadherin-Related 23 2 3
  • Cadherin-Related Family Member 23 2 3
  • Cadherin-Like 23 2 3
  • Otocadherin 3 4
  • USH1D 3 6
  • Cadherin Related 23 2
  • Cadherin-23 3
  • KIAA1774 4
  • KIAA1812 4
  • CDHR23 3

External Ids for CDH23 Gene

Previous Symbols for CDH23 Gene

  • DFNB12
  • USH1D

Summaries for CDH23 Gene

Entrez Gene Summary for CDH23 Gene

  • This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

GeneCards Summary for CDH23 Gene

CDH23 (Cadherin-Related 23) is a Protein Coding gene. Diseases associated with CDH23 include usher syndrome, type 1d and dfnb12 nonsyndromic hearing loss and deafness. Among its related pathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for CDH23 Gene

  • Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing

Gene Wiki entry for CDH23 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH23 Gene

Genomics for CDH23 Gene

Genomic Location for CDH23 Gene

Start:
71,396,934 bp from pter
End:
71,815,947 bp from pter
Size:
419,014 bases
Orientation:
Plus strand

Genomic View for CDH23 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDH23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH23 Gene

Regulatory Elements for CDH23 Gene

Proteins for CDH23 Gene

  • Protein details for CDH23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H251-CAD23_HUMAN
    Recommended name:
    Cadherin-23
    Protein Accession:
    Q9H251
    Secondary Accessions:
    • C4IXS9
    • F6U049
    • Q5QGS1
    • Q5QGS2
    • Q5QGS5
    • Q5QGS6
    • Q5XKN2
    • Q6UWW1
    • Q96JL3
    • Q9H4K9

    Protein attributes for CDH23 Gene

    Size:
    3354 amino acids
    Molecular mass:
    369494 Da
    Quaternary structure:
    • antiparallel heterodimer with PCDH15 (By similarity). Interacts with USH1C and USH1G.

    Three dimensional structures from OCA and Proteopedia for CDH23 Gene

    Alternative splice isoforms for CDH23 Gene

neXtProt entry for CDH23 Gene

Proteomics data for CDH23 Gene at MOPED

Post-translational modifications for CDH23 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn155, Asn206, Asn349, Asn393, Asn434, Asn466, Asn472, Asn652, Asn694, Asn765, Asn810, Asn827, Asn941, Asn1001, Asn1018, Asn1171, Asn1282, Asn1315, Asn1473, Asn1534, Asn1651, Asn1667, Asn1818, Asn1857, Asn1889, Asn1902, Asn2013, Asn2050, Asn2129, Asn2168, Asn2195, Asn2263, Asn2357, Asn2369, Asn2616, Asn2749, Asn2808, Asn2877, Asn2896, Asn2941, and Asn2981

No data available for DME Specific Peptides for CDH23 Gene

Domains for CDH23 Gene

Gene Families for CDH23 Gene

HGNC:
  • CDHR :Cadherins / Cadherin-related

Protein Domains for CDH23 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

CAD23_HUMAN
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.:
    • Q9H251
  • Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15.:
    • Q9H251
  • Contains 27 cadherin domains.:
    • Q9H251
genes like me logo Genes that share domains with CDH23: view

Function for CDH23 Gene

Molecular function for CDH23 Gene

UniProtKB/Swiss-Prot Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing

Gene Ontology (GO) - Molecular Function for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12485990
genes like me logo Genes that share ontologies with CDH23: view
genes like me logo Genes that share phenotypes with CDH23: view

Animal Models for CDH23 Gene

MGI Knock Outs for CDH23:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CDH23 Gene

Localization for CDH23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH23 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDH23 Gene COMPARTMENTS Subcellular localization image for CDH23 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane NAS 11138009
GO:0016021 integral component of membrane IEA --
GO:0032420 stereocilium ISS 12485990
genes like me logo Genes that share ontologies with CDH23: view

Pathways for CDH23 Gene

genes like me logo Genes that share pathways with CDH23: view

Pathways by source for CDH23 Gene

Gene Ontology (GO) - Biological Process for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IMP 17234811
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007601 visual perception IEA --
GO:0007605 sensory perception of sound IMP 15537665
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS 11138009
genes like me logo Genes that share ontologies with CDH23: view

Compounds for CDH23 Gene

(1) HMDB Compounds for CDH23 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for CDH23 Gene

Compound -log(P) Hits PubMed IDs
calcium 0 8
genes like me logo Genes that share compounds with CDH23: view

Transcripts for CDH23 Gene

Unigene Clusters for CDH23 Gene

Cadherin-related 23:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CDH23 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6: - - - -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48a ·
SP1:
SP2: - -
SP3: - -
SP4: -
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11:

ExUns: 48b · 48c ^ 49 ^ 50 ^ 51 ^ 52a · 52b
SP1:
SP2: -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:

Relevant External Links for CDH23 Gene

GeneLoc Exon Structure for
CDH23
ECgene alternative splicing isoforms for
CDH23

Expression for CDH23 Gene

mRNA expression in normal human tissues for CDH23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH23 Gene

This gene is overexpressed in Ovary (5.8), Esophagus - Gastroesophageal Junction (4.4), and Esophagus - Muscularis (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CDH23 Gene

SOURCE GeneReport for Unigene cluster for CDH23 Gene Hs.656032

mRNA Expression by UniProt/SwissProt for CDH23 Gene

Q9H251-CAD23_HUMAN
Tissue specificity: Particularly strong expression in the retina. Found also in the cochlea
genes like me logo Genes that share expressions with CDH23: view

Orthologs for CDH23 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDH23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDH23 36
  • 97.24 (n)
  • 96.63 (a)
cow
(Bos Taurus)
Mammalia CDH23 36
  • 91.02 (n)
  • 94.69 (a)
dog
(Canis familiaris)
Mammalia CDH23 36
  • 91.17 (n)
  • 94.84 (a)
mouse
(Mus musculus)
Mammalia Cdh23 36
  • 88.07 (n)
  • 94.48 (a)
Cdh23 16
platypus
(Ornithorhynchus anatinus)
Mammalia CDH23 37
  • 30 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdh23 36
  • 87.81 (n)
  • 94.59 (a)
chicken
(Gallus gallus)
Aves CDH23 36
  • 77.93 (n)
  • 80.29 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cdh23 36
  • 64.99 (n)
  • 68.46 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01031627.2 37
  • 22 (a)
OneToOne
cdh23 36
  • 66.8 (n)
  • 68.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cad96Cb 37
  • 15 (a)
OneToOne
Cad74A 38
  • 29 (a)
Cad88C 38
  • 26 (a)
ft 38
  • 28 (a)
Cad89D 38
  • 27 (a)
Cad87A 38
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea cdh-12 37
  • 5 (a)
OneToOne
Species with no ortholog for CDH23:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDH23 Gene

ENSEMBL:
Gene Tree for CDH23 (if available)
TreeFam:
Gene Tree for CDH23 (if available)

Paralogs for CDH23 Gene

genes like me logo Genes that share paralogs with CDH23: view

No data available for Paralogs for CDH23 Gene

Variants for CDH23 Gene

Sequence variations from dbSNP and Humsavar for CDH23 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs723274 -- 71,671,813(+) CCTCT(C/G)TTTCC intron-variant
rs734968 -- 71,503,066(-) GCCCC(A/G)CTGGG intron-variant
rs746905 -- 71,529,933(+) CTGAC(C/T)CACCC intron-variant
rs746906 -- 71,529,942(+) CCACC(C/G)CAGCC intron-variant
rs750010 -- 71,452,188(+) AGAAC(A/G)CAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDH23 Gene

Variant ID Type Subtype PubMed ID
esv23135 CNV Loss 19812545
esv2672656 CNV Deletion 23128226
esv2572592 CNV Insertion 19546169
nsv7088 CNV Insertion 18451855
esv271561 CNV Insertion 20981092
esv273539 CNV Insertion 20981092
esv1210256 CNV Insertion 17803354
esv2343384 CNV Deletion 18987734
esv2677320 CNV Deletion 23128226
dgv298e1 CNV Complex 17122850
nsv523021 CNV Gain 19592680
nsv895714 CNV Loss 21882294
dgv113e201 CNV Deletion 23290073
esv2738295 CNV Deletion 23290073
esv1958657 CNV Deletion 18987734
esv4865 CNV Deletion 18987735
esv1004182 CNV Deletion 20482838
esv2676562 CNV Deletion 23128226
nsv24403 CNV Loss 16902084
esv1648968 CNV Deletion 17803354
esv2738317 CNV Deletion 23290073
nsv524906 CNV Loss 19592680
nsv524489 CNV Loss 19592680
nsv7099 CNV Insertion 18451855
nsv467373 CNV Loss 19166990
nsv467374 CNV Gain 19166990
nsv818774 CNV Loss 17921354
nsv467375 CNV Loss 19166990
esv23349 CNV Gain 19812545
nsv831910 CNV Loss 17160897
nsv470963 CNV Loss 18288195
esv2738328 CNV Deletion 23290073
nsv895715 CNV Loss 21882294
esv2658220 CNV Deletion 23128226
nsv895716 CNV Loss 21882294
esv1096295 CNV Deletion 17803354
esv998631 CNV Loss 20482838

Relevant External Links for CDH23 Gene

HapMap Linkage Disequilibrium report
CDH23
Human Gene Mutation Database (HGMD)
CDH23
Locus Specific Mutation Databases (LSDB)
CDH23

Disorders for CDH23 Gene

(2) OMIM Diseases for CDH23 Gene (605516)

UniProtKB/Swiss-Prot

CAD23_HUMAN
  • Usher syndrome 1D (USH1D) [MIM:601067]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269 PubMed:11138009, ECO:0000269 PubMed:12075507, ECO:0000269 PubMed:15660226, ECO:0000269 PubMed:16679490, ECO:0000269 PubMed:18429043}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. {ECO:0000269 PubMed:15537665}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
  • Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11090341, ECO:0000269 PubMed:12075507, ECO:0000269 PubMed:12522556, ECO:0000269 PubMed:15829536, ECO:0000269 PubMed:16679490, ECO:0000269 PubMed:17850630, ECO:0000269 PubMed:22899989, ECO:0000269 PubMed:24767429}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for CDH23 Gene

Disease -log(P) Hits PubMed IDs
usher syndrome 96 15
hearing loss noise-induced 68.3 3
retinal degeneration 54.5 1

Relevant External Links for CDH23

GeneTests
CDH23
GeneReviews
CDH23
Genetic Association Database (GAD)
CDH23
Human Genome Epidemiology (HuGE) Navigator
CDH23
genes like me logo Genes that share disorders with CDH23: view

Publications for CDH23 Gene

  1. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (PMID: 11090341) Bork J.M. … Morell R.J. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID: 15660226) Ouyang X.M. … Liu X.Z. (Hum. Genet. 2005) 3 4 23 49
  3. Modification of human hearing loss by plasma-membrane calcium pump PMCA2. (PMID: 15829536) Schultz J.M. … Griffith A.J. (N. Engl. J. Med. 2005) 3 4 23
  4. [Association of cadherin CDH23 gene polymorphisms with noise induced hearing loss in Chinese workers]. (PMID: 16598924) Yang M. … Wu T. (Wei Sheng Yan Jiu 2006) 3 23 49
  5. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. (PMID: 16679490) Roux A.-F. … Claustres M. (J. Med. Genet. 2006) 3 4 23

Products for CDH23 Gene

Sources for CDH23 Gene

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